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Gabriele Marcello Brodo1, Lauriane Epitaux2, Edmond Schmied3

  • 1Service et département de médecine interne, Réseau hospitalier neuchâtelois, 2000 Neuchâtel.

Revue medicale suisse
|February 12, 2026
PubMed
まとめ

ハッチンソン (Hutchinson) とは

関連する概念動画

Hedgehog Signaling Pathway02:33

Hedgehog Signaling Pathway

The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
Sign Test for Matched Pairs01:17

Sign Test for Matched Pairs

The sign test for matched pairs offers a robust method for comparing two paired samples, often for the effects of an intervention in one of them. This method is very useful in situations where the underlying distribution of the data is unknown. The test compares two related samples—often pre- and post-treatment measurements on the same subjects—to determine if there are significant differences in their median values.
To conduct the sign test, we first calculate the differences in value between...
Appendicitis-I: Introduction01:22

Appendicitis-I: Introduction

The appendix, a small, narrow, blind tube extending from the inferior part of the cecum, is widely regarded as a vestigial organ, having lost much of its original function through evolution. Despite its diminished role, the appendix can become inflamed, a condition known as appendicitis.
Etiology: Appendicitis can arise from various causes, primarily rooted in the obstruction of the appendix lumen. Factors contributing to this obstruction include fecal accumulation, lymphoid hyperplasia and, in...
McNemar's Test01:23

McNemar's Test

McNemar's Test is a nonparametric statistical test used to determine if there is a significant difference in proportions between two related groups when the outcome is binary (e.g., yes/no, success/failure). It is beneficial when we have paired data, such as pre-test/post-test designs, where the same subjects are measured under two different conditions. The test is named after the statistician Quinn McNemar, who introduced it in 1947. It is commonly used in situations where subjects are...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...